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Seckel syndrome 6(SCKL6)

MedGen UID:
766496
•Concept ID:
C3553582
•
Disease or Syndrome
Synonym: SCKL6
 
Gene (location): CEP63 (3q22.2)
 
Monarch Initiative: MONDO:0013871
OMIM®: 614728

Definition

Any Seckel syndrome in which the cause of the disease is a mutation in the CEP63 gene. [from MONDO]

Clinical features

From HPO
Short stature
MedGen UID:
87607
•Concept ID:
C0349588
•
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
See: Feature record | Search on this feature
Delayed speech and language development
MedGen UID:
105318
•Concept ID:
C0454644
•
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
See: Feature record | Search on this feature
Intellectual disability
MedGen UID:
811461
•Concept ID:
C3714756
•
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
See: Feature record | Search on this feature
Primary microcephaly
MedGen UID:
383046
•Concept ID:
C2677180
•
Finding
Head circumference below 2 standard deviations below the mean for age and gender at birth.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Effect of recombinant insulin-like growth factor-1 treatment on short-term linear growth in a child with Majewski osteodysplastic primordial dwarfism type II and hepatic insufficiency.
Faienza MF, Acquafredda A, D'Aniello M, Soldano L, Marzano F, Ventura A, Cavallo L
J Pediatr Endocrinol Metab 2013;26(7-8):771-4. doi: 10.1515/jpem-2012-0397. PMID: 23612698

Recent clinical studies

Etiology

Intracranial aneurysms in microcephalic primordial dwarfism: a systematic review.
Monteiro A, Cortez GM, Granja MF, Agnoletto GJ, Kranich J, Padilha MVR, Aldana P, Hanel R
J Neurointerv Surg 2021 Feb;13(2):171-176. Epub 2020 Jun 10 doi: 10.1136/neurintsurg-2020-016069. PMID: 32522788
Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): a potential role of pericentrin in hematopoiesis.
Unal S, Alanay Y, Cetin M, Boduroglu K, Utine E, Cormier-Daire V, Huber C, Ozsurekci Y, Kilic E, Simsek Kiper OP, Gumruk F
Pediatr Blood Cancer 2014 Feb;61(2):302-5. Epub 2013 Sep 17 doi: 10.1002/pbc.24783. PMID: 24106199
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families.
Willems M, Geneviève D, Borck G, Baumann C, Baujat G, Bieth E, Edery P, Farra C, Gerard M, Héron D, Leheup B, Le Merrer M, Lyonnet S, Martin-Coignard D, Mathieu M, Thauvin-Robinet C, Verloes A, Colleaux L, Munnich A, Cormier-Daire V
J Med Genet 2010 Dec;47(12):797-802. Epub 2009 Jul 29 doi: 10.1136/jmg.2009.067298. PMID: 19643772
Chromosome instability induced in vitro with mitomycin C in five Seckel syndrome patients.
Bobabilla-Morales L, Corona-Rivera A, Corona-Rivera JR, Buenrostro C, García-Cobián TA, Corona-Rivera E, Cantú-Garza JM, García-Cruz D
Am J Med Genet A 2003 Dec 1;123A(2):148-52. doi: 10.1002/ajmg.a.20341. PMID: 14598338
The expression of cytokine and cytokine receptor genes in long-term bone marrow culture in congenital and acquired bone marrow hypoplasias.
Stark R, Andre C, Thierry D, Cherel M, Galibert F, Gluckman E
Br J Haematol 1993 Apr;83(4):560-6. doi: 10.1111/j.1365-2141.1993.tb04691.x. PMID: 7686032

Diagnosis

De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues.
Smits DJ, Schot R, Popescu CA, Dias KR, Ades L, Briere LC, Sweetser DA, Kushima I, Aleksic B, Khan S, Karageorgou V, Ordonez N, Sleutels FJGT, van der Kaay DCM, Van Mol C, Van Esch H, Bertoli-Avella AM, Roscioli T, Mancini GMS
Hum Genet 2023 Jul;142(7):949-964. Epub 2023 May 17 doi: 10.1007/s00439-023-02569-7. PMID: 37198333Free PMC Article
Expanding the phenotype of Seckel syndrome associated with biallelic loss-of-function variants in CEP63.
Pekkola Pacheco N, Pettersson M, Lindstrand A, Grigelioniene G
Am J Med Genet A 2023 Jul;191(7):1929-1934. Epub 2023 Apr 5 doi: 10.1002/ajmg.a.63200. PMID: 37017437
Central nervous system vasculopathy and Seckel syndrome: case illustration and systematic review.
Khojah O, Alamoudi S, Aldawsari N, Babgi M, Lary A
Childs Nerv Syst 2021 Dec;37(12):3847-3860. Epub 2021 Aug 3 doi: 10.1007/s00381-021-05284-8. PMID: 34345934Free PMC Article
Microdeletion 3q syndrome.
Ramieri V, Tarani L, Costantino F, Basile E, Liberati N, Rinna C, Cascone P, Colloridi F
J Craniofac Surg 2011 Nov;22(6):2124-8. doi: 10.1097/SCS.0b013e3182323cdf. PMID: 22067867
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families.
Willems M, Geneviève D, Borck G, Baumann C, Baujat G, Bieth E, Edery P, Farra C, Gerard M, Héron D, Leheup B, Le Merrer M, Lyonnet S, Martin-Coignard D, Mathieu M, Thauvin-Robinet C, Verloes A, Colleaux L, Munnich A, Cormier-Daire V
J Med Genet 2010 Dec;47(12):797-802. Epub 2009 Jul 29 doi: 10.1136/jmg.2009.067298. PMID: 19643772

Therapy

Exploring Splicing-Switching Molecules For Seckel Syndrome Therapy.
Scalet D, Balestra D, Rohban S, Bovolenta M, Perrone D, Bernardi F, Campaner S, Pinotti M
Biochim Biophys Acta Mol Basis Dis 2017 Jan;1863(1):15-20. Epub 2016 Sep 14 doi: 10.1016/j.bbadis.2016.09.011. PMID: 27639833
Effect of recombinant insulin-like growth factor-1 treatment on short-term linear growth in a child with Majewski osteodysplastic primordial dwarfism type II and hepatic insufficiency.
Faienza MF, Acquafredda A, D'Aniello M, Soldano L, Marzano F, Ventura A, Cavallo L
J Pediatr Endocrinol Metab 2013;26(7-8):771-4. doi: 10.1515/jpem-2012-0397. PMID: 23612698

Prognosis

Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models.
Batool T, Irshad S, Riaz M, Mahmood Baig S, Nuernberg P, Hussain MS
J Hum Genet 2023 Jul;68(7):469-475. Epub 2023 Mar 3 doi: 10.1038/s10038-023-01132-6. PMID: 36864288
Exploring Splicing-Switching Molecules For Seckel Syndrome Therapy.
Scalet D, Balestra D, Rohban S, Bovolenta M, Perrone D, Bernardi F, Campaner S, Pinotti M
Biochim Biophys Acta Mol Basis Dis 2017 Jan;1863(1):15-20. Epub 2016 Sep 14 doi: 10.1016/j.bbadis.2016.09.011. PMID: 27639833
Microdeletion 3q syndrome.
Ramieri V, Tarani L, Costantino F, Basile E, Liberati N, Rinna C, Cascone P, Colloridi F
J Craniofac Surg 2011 Nov;22(6):2124-8. doi: 10.1097/SCS.0b013e3182323cdf. PMID: 22067867
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families.
Willems M, Geneviève D, Borck G, Baumann C, Baujat G, Bieth E, Edery P, Farra C, Gerard M, Héron D, Leheup B, Le Merrer M, Lyonnet S, Martin-Coignard D, Mathieu M, Thauvin-Robinet C, Verloes A, Colleaux L, Munnich A, Cormier-Daire V
J Med Genet 2010 Dec;47(12):797-802. Epub 2009 Jul 29 doi: 10.1136/jmg.2009.067298. PMID: 19643772
Seckel syndrome in a family with three affected children and hematological manifestations associated with chromosome instability.
Syrrou M, Georgiou I, Paschopoulos M, Lolis D
Genet Couns 1995;6(1):37-41. PMID: 7794560

Clinical prediction guides

De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues.
Smits DJ, Schot R, Popescu CA, Dias KR, Ades L, Briere LC, Sweetser DA, Kushima I, Aleksic B, Khan S, Karageorgou V, Ordonez N, Sleutels FJGT, van der Kaay DCM, Van Mol C, Van Esch H, Bertoli-Avella AM, Roscioli T, Mancini GMS
Hum Genet 2023 Jul;142(7):949-964. Epub 2023 May 17 doi: 10.1007/s00439-023-02569-7. PMID: 37198333Free PMC Article
Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models.
Batool T, Irshad S, Riaz M, Mahmood Baig S, Nuernberg P, Hussain MS
J Hum Genet 2023 Jul;68(7):469-475. Epub 2023 Mar 3 doi: 10.1038/s10038-023-01132-6. PMID: 36864288
Exploring Splicing-Switching Molecules For Seckel Syndrome Therapy.
Scalet D, Balestra D, Rohban S, Bovolenta M, Perrone D, Bernardi F, Campaner S, Pinotti M
Biochim Biophys Acta Mol Basis Dis 2017 Jan;1863(1):15-20. Epub 2016 Sep 14 doi: 10.1016/j.bbadis.2016.09.011. PMID: 27639833
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families.
Willems M, Geneviève D, Borck G, Baumann C, Baujat G, Bieth E, Edery P, Farra C, Gerard M, Héron D, Leheup B, Le Merrer M, Lyonnet S, Martin-Coignard D, Mathieu M, Thauvin-Robinet C, Verloes A, Colleaux L, Munnich A, Cormier-Daire V
J Med Genet 2010 Dec;47(12):797-802. Epub 2009 Jul 29 doi: 10.1136/jmg.2009.067298. PMID: 19643772
Craniofacial morphology, dentition, and skeletal maturity in four siblings with Seckel syndrome.
Kjaer I, Hansen N, Becktor KB, Birkebaek N, Balslev T
Cleft Palate Craniofac J 2001 Nov;38(6):645-51. doi: 10.1597/1545-1569_2001_038_0645_cmdasm_2.0.co_2. PMID: 11681999

Recent systematic reviews

Central nervous system vasculopathy and Seckel syndrome: case illustration and systematic review.
Khojah O, Alamoudi S, Aldawsari N, Babgi M, Lary A
Childs Nerv Syst 2021 Dec;37(12):3847-3860. Epub 2021 Aug 3 doi: 10.1007/s00381-021-05284-8. PMID: 34345934Free PMC Article
Intracranial aneurysms in microcephalic primordial dwarfism: a systematic review.
Monteiro A, Cortez GM, Granja MF, Agnoletto GJ, Kranich J, Padilha MVR, Aldana P, Hanel R
J Neurointerv Surg 2021 Feb;13(2):171-176. Epub 2020 Jun 10 doi: 10.1136/neurintsurg-2020-016069. PMID: 32522788

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