TY - JOUR
T1 - A Novel Missense Variant in PHF6 Gene Causing Börjeson-Forssman-Lehman Syndrome
AU - Bellad, Anikha
AU - Bandari, Aravind K.
AU - Pandey, Akhilesh
AU - Girimaji, Satish Chandra
AU - Muthusamy, Babylakshmi
N1 - Publisher Copyright:
© 2020, Springer Science+Business Media, LLC, part of Springer Nature.
PY - 2020/9/1
Y1 - 2020/9/1
N2 - Börjeson-Forssman-Lehman Syndrome (BFLS) is a rare X-linked recessive syndrome characterized by intellectual disability, developmental delay, obesity, epilepsy, swelling of the subcutaneous tissues of the face, large but not deformed ears, hypogonadism, and gynecomastia. Pathogenic mutations in PHD finger protein 6 (PHF6) have been reported to cause BFLS. In this study, we describe two male siblings with mild intellectual disability, global developmental delay, short stature, microcephaly, and nyctalopia. Whole exome sequencing of the affected siblings and the parents identified a missense variant (c.413C > G) in the PHF6 gene, which leads to alteration of a serine residue at position 138 to cysteine. This mutation is located in a highly conserved region. Sanger sequencing confirmed the segregation of this mutation in the family in an X-linked recessive fashion. Multiple mass spectrometry-based proteomic studies have reported phosphorylation at serine 138 that describes the possible role of serine 138 in signaling. This novel variant in PHF6 gene helped in establishing a diagnosis of BFLS.
AB - Börjeson-Forssman-Lehman Syndrome (BFLS) is a rare X-linked recessive syndrome characterized by intellectual disability, developmental delay, obesity, epilepsy, swelling of the subcutaneous tissues of the face, large but not deformed ears, hypogonadism, and gynecomastia. Pathogenic mutations in PHD finger protein 6 (PHF6) have been reported to cause BFLS. In this study, we describe two male siblings with mild intellectual disability, global developmental delay, short stature, microcephaly, and nyctalopia. Whole exome sequencing of the affected siblings and the parents identified a missense variant (c.413C > G) in the PHF6 gene, which leads to alteration of a serine residue at position 138 to cysteine. This mutation is located in a highly conserved region. Sanger sequencing confirmed the segregation of this mutation in the family in an X-linked recessive fashion. Multiple mass spectrometry-based proteomic studies have reported phosphorylation at serine 138 that describes the possible role of serine 138 in signaling. This novel variant in PHF6 gene helped in establishing a diagnosis of BFLS.
KW - Alternative splicing
KW - Brain development
KW - Hypogonadism
KW - NuRD complex
KW - Nucleolar
KW - Obesity
KW - Transcription regulation
UR - http://www.scopus.com/inward/record.url?scp=85084547341&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85084547341&partnerID=8YFLogxK
U2 - 10.1007/s12031-020-01560-5
DO - 10.1007/s12031-020-01560-5
M3 - Article
C2 - 32399860
AN - SCOPUS:85084547341
SN - 0895-8696
VL - 70
SP - 1403
EP - 1409
JO - Journal of Molecular Neuroscience
JF - Journal of Molecular Neuroscience
IS - 9
ER -