A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel CDHR1 frameshift and known missense variants

被引：5

作者：

Haque, Muhammad Nazmul ^{[1
,2
]}

Kurata, Kentaro ^{[2
]}

Hosono, Katsuhiro ^{[2
]}

Ohtsubo, Masafumi ^{[1
]}

Ohishi, Kentaro ^{[1
]}

Sato, Miho ^{[2
]}

Minoshima, Shinsei ^{[1
]}

Hotta, Yoshihiro ^{[2
]}

机构：

[1] Hamamatsu Univ Sch Med, Dept Photomed Genom, Inst Med Photon Res, Preeminent Med Photon Educ & Res Ctr, Hamamatsu, Shizuoka, Japan

[2] Hamamatsu Univ Sch Med, Dept Ophthalmol, Hamamatsu, Shizuoka, Japan

来源：

HUMAN GENOME VARIATION | 2019年 / 6卷 / 1期

基金：

日本学术振兴会;

关键词：

OUTER SEGMENT; MUTATION; IDENTIFICATION; CADHERIN; GENE;

D O I：

10.1038/s41439-019-0048-8

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We analyzed two siblings in a Japanese family with delayed onset cone-rod dystrophy (CRD) using whole-exome sequencing. A novel frameshift c.1106dup (p.H370Afs*17) variant and a known missense c.2027 T > A (p.I676N) variant in CDHR1 were identified. Both patients shared the same variants, although they displayed a significant difference in disease severity. A meta-analysis of the relationship between the severity and the variant type was performed using the reported cases in the literature and did not reveal a definitive correlation.

引用

页数：5

共 2 条

[1] A novel splice site mutation of CDHR1 in a consanguineous Israeli Christian Arab family segregating autosomal recessive cone-rod dystrophy
Cohen, Ben
Chervinsky, Elena
Jabaly-Habib, Haneen
Shalev, Stavit A.
Briscoe, Daniel
Ben-Yosef, Tamar
MOLECULAR VISION, 2012, 18 (294-97): : 2915 - 2921
[2] Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF
Lazar, Csilla H.
Kimchi, Adva
Namburi, Prasanthi
Mutsuddi, Mousumi
Zelinger, Lina
Beryozkin, Avigail
Ben-Simhon, Shiran
Obolensky, Alexey
Ben-Neriah, Ziva
Argov, Zohar
Pikarsky, Eli
Fellig, Yakov
Marks-Ohana, Devorah
Ratnapriya, Rinki
Banin, Eyal
Sharon, Dror
Swaroop, Anand
HUMAN MUTATION, 2015, 36 (09) : 836 - 841

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