A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination

Masaki Takagi, Satoshi Shimomura, Ryuji Fukuzawa, Satoshi Narumi, Gen Nishimura, Tomonobu Hasegawa

Research output: Contribution to journalArticle

Abstract

Spondylocarpotarsal synostosis syndrome (SCT) is a rare group of skeletal dysplasias, characterized by disproportionate short stature with a short trunk, abnormal segmentation of the spine with vertebral fusion, scoliosis and lordosis, carpal and tarsal synostosis, and mild facial dysmorphisms. While the majority of the cases show autosomal recessive inheritance, only a few cases of vertical transmissions, with MYH3 mutations, have been reported. Here we report a case with typical SCT, carrying a novel heterozygous mutation in MYH3. This observation supports the hypothesis of a pathogenic link between autosomal dominant SCT and heterozygous mutations in MYH3. Of note, our case showed basilar invagination on brain magnetic resonance imaging at the age of 10 years. Basilar invagination could be a rare complication of both autosomal recessive and dominant SCT, indicating that prompt investigation are warranted for SCT patients.

Original languageEnglish
JournalJournal of Human Genetics
DOIs
Publication statusAccepted/In press - 2018 Jan 1

Fingerprint

Mutation
Lordosis
Scoliosis
Wrist
Spine
Magnetic Resonance Imaging
Brain
Spondylocarpotarsal synostosis
Tarsal Coalition

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination. / Takagi, Masaki; Shimomura, Satoshi; Fukuzawa, Ryuji; Narumi, Satoshi; Nishimura, Gen; Hasegawa, Tomonobu.

In: Journal of Human Genetics, 01.01.2018.

Research output: Contribution to journalArticle

Takagi, Masaki ; Shimomura, Satoshi ; Fukuzawa, Ryuji ; Narumi, Satoshi ; Nishimura, Gen ; Hasegawa, Tomonobu. / A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination. In: Journal of Human Genetics. 2018.
@article{681961b7175f492ab596099246fe1576,
title = "A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination",
abstract = "Spondylocarpotarsal synostosis syndrome (SCT) is a rare group of skeletal dysplasias, characterized by disproportionate short stature with a short trunk, abnormal segmentation of the spine with vertebral fusion, scoliosis and lordosis, carpal and tarsal synostosis, and mild facial dysmorphisms. While the majority of the cases show autosomal recessive inheritance, only a few cases of vertical transmissions, with MYH3 mutations, have been reported. Here we report a case with typical SCT, carrying a novel heterozygous mutation in MYH3. This observation supports the hypothesis of a pathogenic link between autosomal dominant SCT and heterozygous mutations in MYH3. Of note, our case showed basilar invagination on brain magnetic resonance imaging at the age of 10 years. Basilar invagination could be a rare complication of both autosomal recessive and dominant SCT, indicating that prompt investigation are warranted for SCT patients.",
author = "Masaki Takagi and Satoshi Shimomura and Ryuji Fukuzawa and Satoshi Narumi and Gen Nishimura and Tomonobu Hasegawa",
year = "2018",
month = "1",
day = "1",
doi = "10.1038/s10038-018-0513-0",
language = "English",
journal = "Journal of Human Genetics",
issn = "1434-5161",
publisher = "Nature Publishing Group",

}

TY - JOUR

T1 - A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination

AU - Takagi, Masaki

AU - Shimomura, Satoshi

AU - Fukuzawa, Ryuji

AU - Narumi, Satoshi

AU - Nishimura, Gen

AU - Hasegawa, Tomonobu

PY - 2018/1/1

Y1 - 2018/1/1

N2 - Spondylocarpotarsal synostosis syndrome (SCT) is a rare group of skeletal dysplasias, characterized by disproportionate short stature with a short trunk, abnormal segmentation of the spine with vertebral fusion, scoliosis and lordosis, carpal and tarsal synostosis, and mild facial dysmorphisms. While the majority of the cases show autosomal recessive inheritance, only a few cases of vertical transmissions, with MYH3 mutations, have been reported. Here we report a case with typical SCT, carrying a novel heterozygous mutation in MYH3. This observation supports the hypothesis of a pathogenic link between autosomal dominant SCT and heterozygous mutations in MYH3. Of note, our case showed basilar invagination on brain magnetic resonance imaging at the age of 10 years. Basilar invagination could be a rare complication of both autosomal recessive and dominant SCT, indicating that prompt investigation are warranted for SCT patients.

AB - Spondylocarpotarsal synostosis syndrome (SCT) is a rare group of skeletal dysplasias, characterized by disproportionate short stature with a short trunk, abnormal segmentation of the spine with vertebral fusion, scoliosis and lordosis, carpal and tarsal synostosis, and mild facial dysmorphisms. While the majority of the cases show autosomal recessive inheritance, only a few cases of vertical transmissions, with MYH3 mutations, have been reported. Here we report a case with typical SCT, carrying a novel heterozygous mutation in MYH3. This observation supports the hypothesis of a pathogenic link between autosomal dominant SCT and heterozygous mutations in MYH3. Of note, our case showed basilar invagination on brain magnetic resonance imaging at the age of 10 years. Basilar invagination could be a rare complication of both autosomal recessive and dominant SCT, indicating that prompt investigation are warranted for SCT patients.

UR - http://www.scopus.com/inward/record.url?scp=85053553824&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85053553824&partnerID=8YFLogxK

U2 - 10.1038/s10038-018-0513-0

DO - 10.1038/s10038-018-0513-0

M3 - Article

C2 - 30228365

AN - SCOPUS:85053553824

JO - Journal of Human Genetics

JF - Journal of Human Genetics

SN - 1434-5161

ER -