A novel missense variant in the BBS7 gene underlying Bardet-Biedl syndrome in a consanguineous Pakistani family.
Journal
Clinical dysmorphology
ISSN: 1473-5717
Titre abrégé: Clin Dysmorphol
Pays: England
ID NLM: 9207893
Informations de publication
Date de publication:
Jan 2020
Jan 2020
Historique:
pubmed:
31
8
2019
medline:
17
4
2020
entrez:
31
8
2019
Statut:
ppublish
Résumé
Bardet-Biedl syndrome (BBS) is characterized by six major features: postaxial polydactyly, obesity, learning disabilities, renal anomalies, retinitis pigmentosa and hypogonadism and is inherited in an autosomal recessive manner. BBS is caused by disease causing sequence variants in the 22 BBS genes identified to date. In the present study, a single consanguineous Pakistani Family with BBS was clinically and genetically characterized. After establishing linkage to a BBS gene on chromosome 4q27, Sanger sequencing was performed in all available affected and unaffected members. Sequence analysis of the BBS7 gene revealed novel substitution mutation (c.719G>T; p. Gly240Val). Our findings further extend the body of evidence implicating BBS7 in causing BBS and expand the mutation spectrum.
Identifiants
pubmed: 31469663
doi: 10.1097/MCD.0000000000000294
pii: 00019605-202001000-00003
doi:
Substances chimiques
Adaptor Proteins, Signal Transducing
0
Bbs7 protein, human
0
Cytoskeletal Proteins
0
Types de publication
Case Reports
Clinical Trial
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
17-23Références
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