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NM_139248.3(LIPH):c.736T>A (p.Cys246Ser) AND Woolly hair, autosomal recessive 2, with or without hypotrichosis

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 1, 2009
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000023645.2

Allele description [Variation Report for NM_139248.3(LIPH):c.736T>A (p.Cys246Ser)]

NM_139248.3(LIPH):c.736T>A (p.Cys246Ser)

Gene:
LIPH:lipase H [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q27.2
Genomic location:
Preferred name:
NM_139248.3(LIPH):c.736T>A (p.Cys246Ser)
HGVS:
  • NC_000003.12:g.185519292A>T
  • NG_012183.1:g.38290T>A
  • NM_139248.3:c.736T>AMANE SELECT
  • NP_640341.1:p.Cys246Ser
  • NC_000003.11:g.185237080A>T
  • NM_139248.2:c.736T>A
  • p.Cys246Ser
Protein change:
C246S; CYS246SER
Links:
OMIM: 607365.0007; dbSNP: rs201249971
NCBI 1000 Genomes Browser:
rs201249971
Molecular consequence:
  • NM_139248.3:c.736T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Woolly hair, autosomal recessive 2, with or without hypotrichosis
Identifiers:
MedGen: C3148823

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000044936OMIM
no assertion criteria provided
Pathogenic
(Mar 1, 2009) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis.

Shimomura Y, Wajid M, Petukhova L, Shapiro L, Christiano AM.

J Invest Dermatol. 2009 Mar;129(3):622-8. doi: 10.1038/jid.2008.290. Epub 2008 Oct 2.

PubMed [citation]
PMID:
18830268

Details of each submission

From OMIM, SCV000044936.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 2 female probands, 3 years and 4 years of age, respectively, from 2 Japanese families with woolly hair and hypotrichosis (see 609239), Shimomura et al. (2009) identified homozygosity for a 736T-A transversion in exon 6 of the LIPH gene, resulting in a cys246-to-ser (C246S) substitution at a highly conserved residue that is considered critical for the formation of a disulfide bond. In an unrelated 4-year-old Japanese boy with woolly hair and hypotrichosis, Shimomura et al. (2009) identified compound heterozygosity for the C246S mutation and a 742C-A transversion in exon 6 of LIPH, resulting in a his248-to-asn (H248N; 607365.0008) substitution, involving 1 of 3 highly conserved catalytic residues. The unaffected parents of both girls were heterozygous for the C246S mutation; no DNA was available from the boy's parents. Neither mutation was found in 100 unrelated Japanese controls.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024