Bi‐allelic loss‐of‐function novel variants in LTBP3‐related skeletal dysplasia: Report of first patient from India

Dental anomalies and short stature (DASS) has been recently identified as a distinct entity, associated with bi‐allelic hypomorphic variants in LTBP3 gene. Only 20 individuals from nine families have been previously reported, with a consistent phenotype of short stature, brachyolmia, and amelogenesi...

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Bibliographic Details
Published inAmerican journal of medical genetics. Part A Vol. 182; no. 8; pp. 1944 - 1946
Main Authors Kaur, Ravneet, Siddiqui, Ishrat, Mathur, Vijay, Jana, Manisha, Kabra, Madhulika, Gupta, Neerja
Format Journal Article
LanguageEnglish
Published Hoboken, USA John Wiley & Sons, Inc 01.08.2020
Wiley Subscription Services, Inc
Subjects
Amelogenesis imperfecta
Bone dysplasia
brachyolmia
dental anomalies
Dysplasia
LTBP3
Phenotypes
short stature
Skeleton
India
brachyolmia
short stature
LTBP3
dental anomalies
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Summary:Dental anomalies and short stature (DASS) has been recently identified as a distinct entity, associated with bi‐allelic hypomorphic variants in LTBP3 gene. Only 20 individuals from nine families have been previously reported, with a consistent phenotype of short stature, brachyolmia, and amelogenesis imperfecta. We report the first case from India, with novel radiographic and molecular findings in LTBP3 gene, thereby expanding the phenotypic spectrum of DASS.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.61629