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 6 条

[1] A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel CDHR1 frameshift and known missense variants
Muhammad Nazmul Haque
Kentaro Kurata
Katsuhiro Hosono
Masafumi Ohtsubo
Kentaro Ohishi
Miho Sato
Shinsei Minoshima
Yoshihiro Hotta
Human Genome Variation, 6
[2] 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
[3] A novel GCAP1 missense mutation in a family with autosomal dominant cone-rod dystrophy
Dupps, WJ
Rauen, MP
Andorf, JA
Schrum, KM
Melendez, KA
Stone, EM
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2003, 44 : U358 - U358
[4] Novel triple missense mutations of GUCY2D gene in Japanese family with cone-rod dystrophy:: Possible use of genotyping microarray
Yoshida, Shigeo
Yamaji, Yoko
Yoshida, Ayako
Kuwahara, Rumi
Yamamoto, Ken
Kubata, Toshiaki
Ishibashi, Tatsuro
MOLECULAR VISION, 2006, 12 (177-79): : 1558 - 1564
[5] A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD)
Sokal, I
Dupps, WJ
Grassi, MA
Brown, J
Affatigato, LM
Roychowdhury, N
Yang, LL
Filipek, S
Palczewski, K
Stone, EM
Baehr, W
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2005, 46 (04) : 1124 - 1132
[6] 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

← 1 →