Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients | Zendy

Sayaka Kawashima | Zendy; Akie Nakamura | Zendy; Takanobu Inoue | Zendy; Keiko Matsubara | Zendy; Reiko Horikawa | Zendy; Keiko Wakui | Zendy; Kyoko Takano | Zendy; Yoshimitsu Fukushima | Zendy; Toshi Tatematsu | Zendy; Seiji Mizuno | Zendy; Junko Tsubaki | Zendy; Shigeo Kure | Zendy; Yoichi Matsubara | Zendy; Tsutomu Ogata | Zendy; Maki Fukami | Zendy; Masayo Kagami | Zendy

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Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients

Author(s) -

Sayaka Kawashima,

Akie Nakamura,

Takanobu Inoue,

Keiko Matsubara,

Reiko Horikawa,

Keiko Wakui,

Kyoko Takano,

Yoshimitsu Fukushima,

Toshi Tatematsu,

Seiji Mizuno,

Junko Tsubaki,

Shigeo Kure,

Yoichi Matsubara,

Tsutomu Ogata,

Maki Fukami,

Masayo Kagami

Publication year - 2018

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2017-02780

Subject(s) - uniparental disomy , gnas complex locus , short stature , endocrinology , medicine , small for gestational age , etiology , genomic imprinting , congenital hypothyroidism , biology , thyroid , genetics , chromosome , gestational age , pregnancy , karyotype , gene , gene expression , dna methylation

Maternal uniparental disomy for chromosome 20 [UPD(20)mat], resulting in aberrant expression of imprinted transcripts at the GNAS locus, is a poorly characterized condition. These patients manifested a phenotype similar to that of Silver-Russell syndrome (SRS) and small for gestational age-short stature (SGA-SS); however, the etiological relationship between UPD(20)mat and SRS/SGA-SS remains unclear. Moreover, no report has described endocrinological assessment of UPD(20)mat patients, although paternal UPD(20), the mirror image entity of UPD(20)mat, is known to cause multiple hormone resistance reflecting reduced α-subunit of the stimulatory G protein expression.

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