Generation of an induced pluripotent stem cell line (SHCDNi003-A) from a one-year-old Chinese Han infant with Allan–Herndon–Dudley syndrome

Wang, Anqi; Xi, Jiaming; Fang, Yuan; Wang, Yilin; Wang, Simei; Wang, Chunmei; Wang, Chao; Lin, Lei; Luo, Xiaona; Xu, Quanmei; Yin, Rongrong; Cheng, Han; Zhang, Yuanfeng; Sun, Xiaomin; Yang, Jie; Yan, Jingbin; Zeng, Fanyi; Chen, Yucai

doi:10.1016/j.scr.2020.101872

Cited by 2 publications

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“…Patient 3 had a c.1026+1G > A spicing site mutation, which was previously reported in one case [24]. In that case, the clinical presentation was similar, showing a severe phenotype, but the thyroid hormone profile was different because the previously reported case showed lower free T 4 levels than patient 3, who had normal free T 4 levels [24]. The novel frameshift mutation c.80delG [p.G27Vfs*57] and nonsense mutation c.58C > T [p.Q20X] on exon 1 were observed in patients 2 and 6, respectively, who had severe phenotypes.…”

Section: Discussionsupporting

confidence: 57%

“…Both patients had a severe phenotype, with spastic paraplegia and no verbal output. Patient 3 had a c.1026+1G > A spicing site mutation, which was previously reported in one case [24]. In that case, the clinical presentation was similar, showing a severe phenotype, but the thyroid hormone profile was different because the previously reported case showed lower free T 4 levels than patient 3, who had normal free T 4 levels [24].…”

Section: Discussionmentioning

confidence: 52%

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Heterogeneous Clinical Characteristics of Allan-Herndon-Dudley Syndrome with SLC16A2 Mutations

et al. 2021

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The purpose of this study was to expand our understanding of phenotypic and genetic variation in Allan-Herndon-Dudley syndrome (AHDS), which is a rare X-linked mental retardation syndrome characterized by hypotonia, generalized spasticity, and moderate-to-severe psychomotor retardation. AHDS is caused by a mutation of solute carrier family 16 member 2 (SLC16A2), which encodes monocarboxylate transporter 8 (MCT8), a transporter of triiodothyronine (T 3 ) into neurons. Methods: We enrolled nine patients with AHDS from unrelated families, except for two patients who were cousins, through a retrospective chart review. Clinical features, brain imaging, electroencephalograms, thyroid hormone profiles, and genetic data were reviewed retrospectively and compared with previously reported cases. Results: We found three novel and five previously reported pathogenic variants in nine patients from eight families. All patients presented with hypotonia, spasticity, severe developmental delay, and elevated serum T 3 levels. Cataplexy, which is a previously unreported phenotype, was found in two patients with the same mutation. In our cohort, seizures were uncommon (n=1) but intractable. Conclusion: This study broadens the known phenotypic variations of AHDS, ranging from relatively mild global developmental delay to a severe form of encephalopathy with hypotonia, spasticity, and no acquisition of independent sitting. The syndromic classification or genetic etiology of global developmental delay is extremely heterogeneous; therefore, early clinical suspicion is challenging for clinicians. However, severe mental retardation with hypotonia, spasticity, and elevated serum T 3 levels in boys is a highly suspicious clinical clue for the early diagnosis of AHDS.

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Section: Discussionsupporting

confidence: 57%

Section: Discussionmentioning

confidence: 52%

Heterogeneous Clinical Characteristics of Allan-Herndon-Dudley Syndrome with SLC16A2 Mutations

et al. 2021

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Characteristics of Allan-Herndon-Dudley Syndrome in Chinese children: Identification of two novel pathogenic variants of the SLC16A2 gene

et al. 2022

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ObjectiveThe aim of this study was to identify causative variants associated with Allan-Herndon-Dudley syndrome (AHDS) in two unrelated Chinese families, and to determine their potential pathogenicity. We also summarized the core clinical symptoms of AHDS by reviewing the related literature.MethodsGenomic DNA was isolated from the peripheral blood of AHDS patients and their family members. Whole exome sequencing (WES) was performed on the proband from each family to identify the candidate variants. Subsequently, Sanger sequencing was used to verify the identified candidate variants and to assess co-segregation among the available family members. In silico prediction combined with 3D protein modeling was conducted to predict the functional effects of the variants on the encoded protein.ResultsTwo novel hemizygous variants of SLC16A2, c.1111_1112insGTCTTGT (Gly375fs*6) and c.942delA (Val315fs*28), were detected in two patients. We compared the clinical symptoms of the patients with all patients with AHDS reported in China and those reported in the literature. While both our patients presented symptoms mostly consistent with AHDS, Patient 1 had no abnormal brain structure and thyroid function, and yet showed other symptoms including lactic aciduria, conjunctival hyperemia, vomiting, laryngeal stridor, low immunoglobulin and iron levels.ConclusionsThis study expands the mutation spectrum of AHDS and has clinical value for variant-based prenatal and postnatal screening for this condition. Doctors often have difficulty identifying AHDS by using clinical symptoms. WES can help to identify specific disorder when diagnosis cannot be made based on symptoms alone.

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Generation of an induced pluripotent stem cell line (SHCDNi003-A) from a one-year-old Chinese Han infant with Allan–Herndon–Dudley syndrome

Cited by 2 publications

References 0 publications

Heterogeneous Clinical Characteristics of Allan-Herndon-Dudley Syndrome with SLC16A2 Mutations

Heterogeneous Clinical Characteristics of Allan-Herndon-Dudley Syndrome with SLC16A2 Mutations

Characteristics of Allan-Herndon-Dudley Syndrome in Chinese children: Identification of two novel pathogenic variants of the SLC16A2 gene

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