TY - JOUR
T1 - A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome
AU - Hebbar, Malavika
AU - Kanthi, Anil
AU - Shukla, Anju
AU - Bielas, Stephanie
AU - Girisha, Katta M.
N1 - Publisher Copyright:
© 2018, The Author(s) under exclusive licence to The Japan Society of Human Genetics.
PY - 2018/7/1
Y1 - 2018/7/1
N2 - Biallelic pathogenic variants in PIBF1 have been identified as one of the genetic etiologies of Joubert syndrome. We report a two-year-old girl with global developmental delay, facial dysmorphism, hypotonia, enlarged cystic kidneys, molar tooth sign, and thinning of corpus callosum. A novel homozygous 36-bp insertion in PIBF1 (c.1181_1182ins36) was identified by exome sequencing as the likely cause of her condition. This is the second publication demonstrating the cause and effect relationship between PIBF1 and Joubert syndrome.
AB - Biallelic pathogenic variants in PIBF1 have been identified as one of the genetic etiologies of Joubert syndrome. We report a two-year-old girl with global developmental delay, facial dysmorphism, hypotonia, enlarged cystic kidneys, molar tooth sign, and thinning of corpus callosum. A novel homozygous 36-bp insertion in PIBF1 (c.1181_1182ins36) was identified by exome sequencing as the likely cause of her condition. This is the second publication demonstrating the cause and effect relationship between PIBF1 and Joubert syndrome.
UR - http://www.scopus.com/inward/record.url?scp=85046025547&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85046025547&partnerID=8YFLogxK
U2 - 10.1038/s10038-018-0462-7
DO - 10.1038/s10038-018-0462-7
M3 - Article
AN - SCOPUS:85046025547
SN - 1434-5161
VL - 63
SP - 935
EP - 939
JO - Journal of Human Genetics
JF - Journal of Human Genetics
IS - 8
ER -