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A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome.

Abstract Perrault syndrome is a rare multisystem disorder that manifests with sensorineural hearing loss in both sexes, primary ovarian insufficiency in females and neurological features. The syndrome is heterogeneous both genetically and phenotypically.
PMID
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Authors

Mayor MeshTerms

Homozygote

Mutation, Missense

Keywords

HSD17B4

Neurological features

Ovarian dysgenesis

Perrault syndrome

Sensorineural deafness

Variant

Journal Title bmc medical genetics
Publication Year Start




PMID- 28830375
OWN - NLM
STAT- MEDLINE
DA  - 20170823
DCOM- 20170905
LR  - 20170906
IS  - 1471-2350 (Electronic)
IS  - 1471-2350 (Linking)
VI  - 18
IP  - 1
DP  - 2017 Aug 23
TI  - A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese
      Han family with type II Perrault syndrome.
PG  - 91
LID - 10.1186/s12881-017-0453-0 [doi]
AB  - BACKGROUND: Perrault syndrome is a rare multisystem disorder that manifests with 
      sensorineural hearing loss in both sexes, primary ovarian insufficiency in
      females and neurological features. The syndrome is heterogeneous both genetically
      and phenotypically. CASE PRESENTATION: We reported a consanguineous family (two
      affected sisters) with Perrault syndrome. The proband had the characteristics of 
      Perrault syndrome: ovarian dysgenesis, bilateral hearing loss and obvious
      neurological signs. Target genetic sequencing and triplet repeat primed PCR
      (TP-PCR) plus capillary electrophoresis was conducted to detect causative
      mutations in the proband. The detected variant was further confirmed in the
      proband and tested in other family members by Sanger sequencing. Both the proband
      and her sister were found homozygous for the novel variant HSD17B4 c.298G > T
      (p.A100S) with their parents heterozygous. Detected by western blot, the protein 
      expression of HSD17B4 mutant was much lower than that of the wild type in SH-SY5Y
      cells transfected by HSD17B4 wild type or mutant plasmid, which indicated the
      pathogenicity of the HSD17B4 mutation. CONCLUSIONS: Our findings supported that
      HSD17B4 was one of the genes contributing to Perrault syndrome with the likely
      pathogenic variant c.298G > T (p.A100S). Special manifestations of cerebellar
      impairment were found in cases caused by HSD17B4 mutations. Besides, attention
      should be paid to distinguish Perrault syndrome from D-bifunctional protein
      deficiency and hereditary ataxia.
FAU - Chen, Kui
AU  - Chen K
AD  - Department & Institute of Neurology, Huashan Hospital, Fudan University, 12
      Wulumuqi Zhong Road, Shanghai, 200040, China.
FAU - Yang, Ke
AU  - Yang K
AD  - Department & Institute of Neurology, Huashan Hospital, Fudan University, 12
      Wulumuqi Zhong Road, Shanghai, 200040, China.
FAU - Luo, Su-Shan
AU  - Luo SS
AD  - Department & Institute of Neurology, Huashan Hospital, Fudan University, 12
      Wulumuqi Zhong Road, Shanghai, 200040, China.
FAU - Chen, Chen
AU  - Chen C
AD  - Department & Institute of Neurology, Huashan Hospital, Fudan University, 12
      Wulumuqi Zhong Road, Shanghai, 200040, China.
FAU - Wang, Ying
AU  - Wang Y
AD  - Department & Institute of Neurology, Huashan Hospital, Fudan University, 12
      Wulumuqi Zhong Road, Shanghai, 200040, China.
FAU - Wang, Yi-Xuan
AU  - Wang YX
AD  - Department & Institute of Neurology, Huashan Hospital, Fudan University, 12
      Wulumuqi Zhong Road, Shanghai, 200040, China.
FAU - Li, Da-Ke
AU  - Li DK
AD  - Department & Institute of Neurology, Huashan Hospital, Fudan University, 12
      Wulumuqi Zhong Road, Shanghai, 200040, China.
FAU - Yang, Yu-Jie
AU  - Yang YJ
AD  - Department & Institute of Neurology, Huashan Hospital, Fudan University, 12
      Wulumuqi Zhong Road, Shanghai, 200040, China.
FAU - Tang, Yi-Lin
AU  - Tang YL
AD  - Department & Institute of Neurology, Huashan Hospital, Fudan University, 12
      Wulumuqi Zhong Road, Shanghai, 200040, China.
FAU - Liu, Feng-Tao
AU  - Liu FT
AD  - Department & Institute of Neurology, Huashan Hospital, Fudan University, 12
      Wulumuqi Zhong Road, Shanghai, 200040, China.
FAU - Wang, Jian
AU  - Wang J
AD  - Department & Institute of Neurology, Huashan Hospital, Fudan University, 12
      Wulumuqi Zhong Road, Shanghai, 200040, China.
FAU - Wu, Jian-Jun
AU  - Wu JJ
AD  - Department & Institute of Neurology, Huashan Hospital, Fudan University, 12
      Wulumuqi Zhong Road, Shanghai, 200040, China.
FAU - Sun, Yi-Min
AU  - Sun YM
AUID- ORCID: http://orcid.org/0000-0002-3073-6444
AD  - Department & Institute of Neurology, Huashan Hospital, Fudan University, 12
      Wulumuqi Zhong Road, Shanghai, 200040, China. [email protected]
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20170823
PL  - England
TA  - BMC Med Genet
JT  - BMC medical genetics
JID - 100968552
RN  - EC 4.2.1.107 (Peroxisomal Multifunctional Protein-2)
RN  - EC 4.2.1.119 (HSD17B4 protein, human)
RN  - Gonadal dysgenesis XX type deafness
SB  - IM
MH  - Adult
MH  - Asian Continental Ancestry Group/*genetics
MH  - Cell Line
MH  - Female
MH  - Gene Expression Regulation
MH  - Genetic Testing
MH  - Gonadal Dysgenesis, 46,XX/diagnosis/*genetics
MH  - Hearing Loss, Sensorineural/diagnosis/*genetics
MH  - Heterozygote
MH  - *Homozygote
MH  - Humans
MH  - Magnetic Resonance Imaging
MH  - *Mutation, Missense
MH  - Pedigree
MH  - Peroxisomal Multifunctional Protein-2/*genetics/metabolism
MH  - Sequence Analysis, DNA
PMC - PMC5568266
OTO - NOTNLM
OT  - HSD17B4
OT  - Neurological features
OT  - Ovarian dysgenesis
OT  - Perrault syndrome
OT  - Sensorineural deafness
OT  - Variant
EDAT- 2017/08/24 06:00
MHDA- 2017/09/07 06:00
CRDT- 2017/08/24 06:00
PHST- 2016/11/15 [received]
PHST- 2017/08/14 [accepted]
AID - 10.1186/s12881-017-0453-0 [doi]
AID - 10.1186/s12881-017-0453-0 [pii]
PST - epublish
SO  - BMC Med Genet. 2017 Aug 23;18(1):91. doi: 10.1186/s12881-017-0453-0.