TY - JOUR
T1 - Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome
AU - Singh, Swati
AU - Nampoothiri, Sheela
AU - Narayanan, Dhanya Lakshmi
AU - Chaudhry, Chakshu
AU - Salvankar, Sandesh
AU - Girisha, Katta M.
N1 - Publisher Copyright:
© The Author(s) 2024.
PY - 2024/5/3
Y1 - 2024/5/3
N2 - Orofaciodigital syndrome is a distinctive subtype of skeletal ciliopathies. Disease-causing variants in the genes encoding the CPLANE complex result in a wide variety of skeletal dysplasia with disturbed ciliary functions. The phenotypic spectrum includes orofaciodigital syndrome and short rib polydactyly syndrome. FUZ, as a part of the CPLANE complex, is involved in intraflagellar vesicular trafficking within primary cilia. Previously, the variants, c.98_111+9del and c.851G>T in FUZ were identified in two individuals with a skeletal ciliopathy, manifesting digital anomalies (polydactyly, syndactyly), orofacial cleft, short ribs and cardiac defects. Here, we present two novel variants, c.601G>A and c.625_636del in biallelic state, in two additional subjects exhibiting phenotypic overlap with the previously reported cases. Our findings underscore the association between biallelic loss of function variants in FUZ and skeletal ciliopathy akin to orofaciodigital syndrome.
AB - Orofaciodigital syndrome is a distinctive subtype of skeletal ciliopathies. Disease-causing variants in the genes encoding the CPLANE complex result in a wide variety of skeletal dysplasia with disturbed ciliary functions. The phenotypic spectrum includes orofaciodigital syndrome and short rib polydactyly syndrome. FUZ, as a part of the CPLANE complex, is involved in intraflagellar vesicular trafficking within primary cilia. Previously, the variants, c.98_111+9del and c.851G>T in FUZ were identified in two individuals with a skeletal ciliopathy, manifesting digital anomalies (polydactyly, syndactyly), orofacial cleft, short ribs and cardiac defects. Here, we present two novel variants, c.601G>A and c.625_636del in biallelic state, in two additional subjects exhibiting phenotypic overlap with the previously reported cases. Our findings underscore the association between biallelic loss of function variants in FUZ and skeletal ciliopathy akin to orofaciodigital syndrome.
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UR - https://www.mendeley.com/catalogue/d668e5d4-2ccd-36ca-9988-f1f49207f530/
U2 - 10.1038/s41431-024-01619-6
DO - 10.1038/s41431-024-01619-6
M3 - Article
C2 - 38702430
AN - SCOPUS:85191965228
SN - 1018-4813
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
ER -