Juberg-Hayward syndrome and Roberts syndrome are allelic, caused by mutations in ESCO2

© 2020 Elsevier Ltd Objective: Juberg-Hayward syndrome (JHS; MIM 216100) is a rare autosomal recessive malformation syndrome, characterized by cleft lip/palate, microcephaly, ptosis, hypoplasia or aplasia of thumbs, short stature, dislocation of radial head, and fusion of humerus and radius leading...

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Main Authors: Piranit Nik Kantaputra, Prapai Dejkhamron, Sissades Tongsima, Chumpol Ngamphiw, Worrachet Intachai, Lukana Ngiwsara, Phannee Sawangareetrakul, Jisnuson Svasti, Bjorn Olsen, James R.Ketudat Cairns, Kanokkan Bumroongkit
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Published: 2020
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spelling th-cmuir.6653943832-701592020-10-14T08:40:43Z Juberg-Hayward syndrome and Roberts syndrome are allelic, caused by mutations in ESCO2 Piranit Nik Kantaputra Prapai Dejkhamron Sissades Tongsima Chumpol Ngamphiw Worrachet Intachai Lukana Ngiwsara Phannee Sawangareetrakul Jisnuson Svasti Bjorn Olsen James R.Ketudat Cairns Kanokkan Bumroongkit Biochemistry, Genetics and Molecular Biology Dentistry Medicine © 2020 Elsevier Ltd Objective: Juberg-Hayward syndrome (JHS; MIM 216100) is a rare autosomal recessive malformation syndrome, characterized by cleft lip/palate, microcephaly, ptosis, hypoplasia or aplasia of thumbs, short stature, dislocation of radial head, and fusion of humerus and radius leading to elbow restriction. A homozygous mutation in ESCO2 has recently been reported to cause Juberg-Hayward syndrome. Our objective was to investigate the molecular etiology of Juberg-Hayward syndrome in two affected Lisu tribe brothers. Materials and Methods: Two patients, the unaffected parents, and two unaffected siblings were studied. Clinical and radiographic examination, whole exome sequencing, Sanger sequencing, Western blot analysis, and chromosome testing were performed. Results: Two affected brothers had characteristic features of Juberg-Hayward syndrome, except for the absence of microcephaly. The elder brother had bilateral cleft lip and palate, short stature, humeroradial synostosis, and simple partial seizure with secondary generalization. The younger brother had unilateral cleft lip and palate, short stature, and dislocation of radial heads. The homozygous (c.1654C > T; p.Arg552Ter) mutation in ESCO2 was identified in both patients. The other unaffected members of the family were heterozygous for the mutation. The presence of humeroradial synostosis and radial head dislocation in the same family is consistent with both being in the same spectrum of forearm malformations. Chromosome testing of the affected patients showed premature centromere separation. Western blot analysis showed reduced amount of truncated protein. Conclusion: Our findings confirm that a homozygous mutation in ESCO2 is the underlying cause of Juberg-Hayward syndrome. Microcephaly does not appear to be a consistent feature of the syndrome. 2020-10-14T08:25:04Z 2020-10-14T08:25:04Z 2020-11-01 Journal 18791506 00039969 2-s2.0-85091234313 10.1016/j.archoralbio.2020.104918 https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85091234313&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/70159
institution Chiang Mai University
building Chiang Mai University Library
continent Asia
country Thailand
Thailand
content_provider Chiang Mai University Library
collection CMU Intellectual Repository
topic Biochemistry, Genetics and Molecular Biology
Dentistry
Medicine
spellingShingle Biochemistry, Genetics and Molecular Biology
Dentistry
Medicine
Piranit Nik Kantaputra
Prapai Dejkhamron
Sissades Tongsima
Chumpol Ngamphiw
Worrachet Intachai
Lukana Ngiwsara
Phannee Sawangareetrakul
Jisnuson Svasti
Bjorn Olsen
James R.Ketudat Cairns
Kanokkan Bumroongkit
Juberg-Hayward syndrome and Roberts syndrome are allelic, caused by mutations in ESCO2
description © 2020 Elsevier Ltd Objective: Juberg-Hayward syndrome (JHS; MIM 216100) is a rare autosomal recessive malformation syndrome, characterized by cleft lip/palate, microcephaly, ptosis, hypoplasia or aplasia of thumbs, short stature, dislocation of radial head, and fusion of humerus and radius leading to elbow restriction. A homozygous mutation in ESCO2 has recently been reported to cause Juberg-Hayward syndrome. Our objective was to investigate the molecular etiology of Juberg-Hayward syndrome in two affected Lisu tribe brothers. Materials and Methods: Two patients, the unaffected parents, and two unaffected siblings were studied. Clinical and radiographic examination, whole exome sequencing, Sanger sequencing, Western blot analysis, and chromosome testing were performed. Results: Two affected brothers had characteristic features of Juberg-Hayward syndrome, except for the absence of microcephaly. The elder brother had bilateral cleft lip and palate, short stature, humeroradial synostosis, and simple partial seizure with secondary generalization. The younger brother had unilateral cleft lip and palate, short stature, and dislocation of radial heads. The homozygous (c.1654C > T; p.Arg552Ter) mutation in ESCO2 was identified in both patients. The other unaffected members of the family were heterozygous for the mutation. The presence of humeroradial synostosis and radial head dislocation in the same family is consistent with both being in the same spectrum of forearm malformations. Chromosome testing of the affected patients showed premature centromere separation. Western blot analysis showed reduced amount of truncated protein. Conclusion: Our findings confirm that a homozygous mutation in ESCO2 is the underlying cause of Juberg-Hayward syndrome. Microcephaly does not appear to be a consistent feature of the syndrome.
format Journal
author Piranit Nik Kantaputra
Prapai Dejkhamron
Sissades Tongsima
Chumpol Ngamphiw
Worrachet Intachai
Lukana Ngiwsara
Phannee Sawangareetrakul
Jisnuson Svasti
Bjorn Olsen
James R.Ketudat Cairns
Kanokkan Bumroongkit
author_facet Piranit Nik Kantaputra
Prapai Dejkhamron
Sissades Tongsima
Chumpol Ngamphiw
Worrachet Intachai
Lukana Ngiwsara
Phannee Sawangareetrakul
Jisnuson Svasti
Bjorn Olsen
James R.Ketudat Cairns
Kanokkan Bumroongkit
author_sort Piranit Nik Kantaputra
title Juberg-Hayward syndrome and Roberts syndrome are allelic, caused by mutations in ESCO2
title_short Juberg-Hayward syndrome and Roberts syndrome are allelic, caused by mutations in ESCO2
title_full Juberg-Hayward syndrome and Roberts syndrome are allelic, caused by mutations in ESCO2
title_fullStr Juberg-Hayward syndrome and Roberts syndrome are allelic, caused by mutations in ESCO2
title_full_unstemmed Juberg-Hayward syndrome and Roberts syndrome are allelic, caused by mutations in ESCO2
title_sort juberg-hayward syndrome and roberts syndrome are allelic, caused by mutations in esco2
publishDate 2020
url https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85091234313&origin=inward
http://cmuir.cmu.ac.th/jspui/handle/6653943832/70159
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