Evidence map›Paper›PMID 41216464›Full record

ArticleTranslational pediatrics2025

Two Chinese patients with Basilicata-Akhtar syndrome caused by novel

Yanrong Qing, Feihan Hu, Wei Su, Yirou Wang, Yao Chen, Qianwen Zhang, Ruen Yao, Tingting Yu, Zhe Su, Bin-Bing S Zhou and 1 more

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In one paragraph

Article in Translational pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors.

Yanrong Qing *Department of Endocrinology, Genetics and Metabolism, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Feihan Hu *Department of Endocrinology, Genetics and Metabolism, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Wei SuDepartment of Endocrinology, Shenzhen Children's Hospital, Shenzhen, China.
Yirou WangDepartment of Endocrinology, Genetics and Metabolism, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Yao ChenDepartment of Endocrinology, Genetics and Metabolism, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Qianwen ZhangDepartment of Endocrinology, Genetics and Metabolism, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Ruen YaoDepartment of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Tingting YuDepartment of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Zhe Su *Department of Endocrinology, Shenzhen Children's Hospital, Shenzhen, China.
Bin-Bing S Zhou *Key Laboratory of Pediatric Hematology & Oncology Ministry of Health, Department of Hematology & Oncology, Shanghai Children's Medical Center-National Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Xiumin Wang *Department of Endocrinology, Genetics and Metabolism, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: MSL3 is a subunit of the chromatin-associated male-specific lethal (MSL) complex that regulates global histone H4 lysine-16 acetylation (H4K16ac) that plays a critical role as an epigenetic regulator in flies and mammals. Variants of Case Description: We present two cases: an 8-year-old girl and a 4-year-11-month-old boy. Two patients mainly exhibiting slightly ID and slightly dysmorphic facial features received a diagnosis of MRXSBA. The next generation sequencing identified two damaging novel Conclusions: Our study expands the genotypic and phenotypic spectrum of Basilicata-Akhtar syndrome. Our data support the notion that the MRG domain of MSL3 is intolerant to loss-of-function variants and responsible for MSL3 function. Over 10 years of clinical follow-up indicates that rhGH treatment could be an option to improve the height in individuals with MRXSBA and GHD. Our study lays an important foundation for the precise diagnosis and therapeutic approaches of MRXSBA.

Indexed as

Basilicata-Akhtar syndrome (MRXSBA)case reportgrowth hormone treatmentliterature reviewnovel MSL3 variants and phenotypes

Identifiers

PMID41216464
PMCPMC12597176

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