Mucolipidosis III Gamma

Last update 01 Nov 2024

Basic Info

Synonyms

ML 3 gamma, ML III GAMMA, ML III gamma

+ [15]

Introduction

An autosomal recessive condition caused by mutation(s) in the GNPTAG gene, encoding N-acetylglucosamine-1-phosphotransferase subunit gamma. It is characterized by a slowing of the growth rate in childhood, joint stiffness, mild cognitive impairment, and cardiorespiratory insufficiency.

100 Clinical Results associated with Mucolipidosis III Gamma

100 Translational Medicine associated with Mucolipidosis III Gamma

0 Patents (Medical) associated with Mucolipidosis III Gamma

Literatures (Medical) associated with Mucolipidosis III Gamma

01 Jan 2024·Diabetologia

Paediatric diabetes subtypes in a consanguineous population: a single-centre cohort study from Kurdistan, Iraq

Article

Author: Wakeling, Matthew N ; Amaratunga, Shenali A ; Hama Salih, Fareda K ; Hussein Tayeb, Tara ; Dusatkova, Petra ; De Franco, Elisa ; Muhamad Sediq, Rozhan N ; Lebl, Jan ; Pruhova, Stepanka

AbstractAims/hypothesisMonogenic diabetes is estimated to account for 1–6% of paediatric diabetes cases in primarily non-consanguineous populations, while the incidence and genetic spectrum in consanguineous regions are insufficiently defined. In this single-centre study we aimed to evaluate diabetes subtypes, obtain the consanguinity rate and study the genetic background of individuals with syndromic and neonatal diabetes in a population with a high rate of consanguinity.MethodsData collection was carried out cross-sectionally in November 2021 at the paediatric diabetic clinic, Dr Jamal Ahmad Rashed Hospital, in Sulaimani, Kurdistan, Iraq. At the time of data collection, 754 individuals with diabetes (381 boys) aged up to 16 years were registered. Relevant participant data was obtained from patient files. Consanguinity status was known in 735 (97.5%) participants. Furthermore, 12 families of children with neonatal diabetes and seven families of children with syndromic diabetes consented to genetic testing by next-generation sequencing. Prioritised variants were evaluated using the American College of Medical Genetics and Genomics guidelines and confirmed by Sanger sequencing.ResultsA total of 269 of 735 participants (36.5%) with known consanguinity status were offspring of consanguineous families. An overwhelming majority of participants (714/754, 94.7%) had clinically defined type 1 diabetes (35% of them were born to consanguineous parents), whereas only eight (1.1%) had type 2 diabetes (38% consanguineous). Fourteen (1.9%) had neonatal diabetes (50% consanguineous), seven (0.9%) had syndromic diabetes (100% consanguineous) and 11 (1.5%) had clinically defined MODY (18% consanguineous). We found that consanguinity was significantly associated with syndromic diabetes (p=0.0023) but not with any other diabetes subtype. The genetic cause was elucidated in ten of 12 participants with neonatal diabetes who consented to genetic testing (homozygous variants in GLIS3 [sibling pair], PTF1A and ZNF808 and heterozygous variants in ABCC8 and INS) and four of seven participants with syndromic diabetes (homozygous variants in INSR, SLC29A3 and WFS1 [sibling pair]). In addition, a participant referred as syndromic diabetes was diagnosed with mucolipidosis gamma and probably has type 2 diabetes.Conclusions/interpretationThis unique single-centre study confirms that, even in a highly consanguineous population, clinically defined type 1 diabetes is the prevailing paediatric diabetes subtype. Furthermore, a pathogenic cause of monogenic diabetes was identified in 83% of tested participants with neonatal diabetes and 57% of participants with syndromic diabetes, with most variants being homozygous. Causative genes in our consanguineous participants were markedly different from genes reported from non-consanguineous populations and also from those reported in other consanguineous populations. To correctly diagnose syndromic diabetes in consanguineous populations, it may be necessary to re-evaluate diagnostic criteria and include additional phenotypic features such as short stature and hepatosplenomegaly.Graphical Abstract

01 Nov 2021·Journal of Cutaneous Pathology

Talimogene laherparepvec pseudolymphomatous reaction mimicking metastatic melanoma

Author: Chung, Catherine G. ; Agnese, Doreen ; Henning, Ania

AbstractTalimogene laherparepvec (TVEC) is a genetically modified herpes simplex virus‐1 approved as an intralesional oncolytic immunotherapy for the treatment of advanced melanoma. Cutaneous reactions at the site of injection may mimic recurrent or progressive melanoma; histopathological findings have included chronic granulomatous dermatitis, neutrophilic dermatitis, lymphocytic dermatitis, and pigment incontinence. We report a 39‐year‐old male with metastatic stage IIIc melanoma treated with TVEC with clinical regression of melanoma lesions that later developed pink nodules at sites of prior injection. Histopathology demonstrated a nodular mononuclear infiltrate that stained strongly and diffusely with CD45 and CD20 with a surrounding rim of CD3‐positive T‐cells. Immunoglobulin gene rearrangement was negative for a clonal B‐cell population. To our knowledge, this is the first report of a pseudolymphomatous reaction mimicking recurrent melanoma after TVEC therapy.

01 Feb 2021·Molecular Biology ReportsQ4 · BIOLOGY

Clinical, radiological and computational studies on two novel GNPTG variants causing mucolipidosis III gamma phenotypes with varying severity

Q4 · BIOLOGY

Article

Author: Doğan, Mustafa ; Eröz, Recep ; Terali, Kerem ; Gezdirici, Alper ; Bolu, Semih

Mucolipidosis III gamma (ML III γ) is a slowly progressive disorder that affects multiple parts of the body such as the skeleton, joints, and connective tissue structures. It is caused by pathogenic variants in the GNPTG gene that provides instructions for producing the γ subunit of GlcNAc-1-phosphotransferase. In this study we aim to characterize clinical findings and biological insights on two novel GNPTG variants causing ML III γ phenotypes with varying severity. We report on two siblings with ML III γ bearing the previously undescribed c.477C > G (p.Y159*) nonsense variant in a homozygous state as well as a patient with ML III γ bearing the novel c.110 + 19_111-17del variant in a homozygous state. These variants were revealed by whole-exome sequencing and Sanger sequencing, respectively. Their parents, who are heterozygotes for the same mutation, are healthy. The clinical and radiographic presentation of ML III γ in our patients who had c.477C > G (p.Y159*) variant is consistent with a relatively severe form of the disease, which is further supported by a working three-dimensional model of the GlcNAc-1-phosphotransferase γ subunit. On the other hand, it is seen that our patient who carries the c.110 + 19_111-17del variant has a milder phenotype. Our findings help broaden the spectrum of GNPTG variants causing ML III γ and offer structural and mechanistic insights into loss of GlcNAc-1-phosphotransferase γ subunit function.

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Mucolipidosis III Gamma

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