A family with fragile X syndrome, Duchenne muscular dystrophy and ichthyosis transmitted by an asymptomatic carrier

Тодорова, Албена; Litvinenko, Ivan; Todorov, Tihomir; Tincheva, Radka; Avdjieva, Daniela; Tincheva, Savina; Mitev, Vanio

doi:10.1111/cge.12148

Cited by 5 publications

(4 citation statements)

References 7 publications

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“…PUDP encodes a member of the haloamide dehalogenase-like ( HAD ) hydrolase superfamily. Diseases associated with PUDP genes include ichthyosis, intellectual disability, X-linked and tricuspid valve stenosis [ 9 , 19 , 20 ]. Our MLPA results demonstrated six duplications in the exon region of STS , partial duplication in the exon and intron regions of NLGN4X , and the exon regions of PUDP , ANOS1 and GPR143 (Fig.…”

Section: Discussionmentioning

confidence: 99%

Prenatally detected six duplications at Xp22.33-p11.22: a case report

Zhang

et al. 2023

BMC Pregnancy Childbirth

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Background The discrepancy between the results of cytogenetics and the results of chromosome microarray analysis (CMA) has often led to confusion over genetic counselling for prenatal diagnosis. Case presentation The prenatal ultrasound results of a congenital heart defect (CHD) foetus displayed an apartial endocardial pad defect and permanently dilated coronary sinus and left superior vena cava at 21 weeks of gestation. Cytogenetic analysis, CMA, fluorescent in situ hybridization (FISH) and multiplex ligation-dependent probe amplification (MLPA) with foetal cord blood samples were used to detect the genetic aetiology. Routine G-binding cytogenetic analysis showed normal karyotypes in both the foetus’ and parents’ blood samples. CMA results demonstrated that there were 53.973-Mb recurrent CNVs at Xp22.33-p11.22, as confirmed by MLPA assay. Conclusions Herein, we described the CNV of six duplications at Xp22.33-p11.22 and the 53.973 Mb duplication CNV that was not found in foetal cord blood samples by conventional cytogenetic methods, and it was confirmed by CMA and MLPA. Our novel findings will provide helpful information for prenatal diagnosis and genetic counselling for foetal CHDs.

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Section: Discussionmentioning

confidence: 99%

Prenatally detected six duplications at Xp22.33-p11.22: a case report

Zhang

et al. 2023

BMC Pregnancy Childbirth

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“…The first such patient was reported by Natori et al [ 16 ], who described a 9-year-old boy with DMD whose clinical phenotype overlapped with FXS. Another paper described the independent segregation of FXS and of DMD in two different brothers with the same mother, who apparently carried fragile X on one of her X chromosomes and DMD on the other X chromosome [ 17 ]. On the other hand, in Patient 1, a double event occurred in the carrier mother—namely, an intragenic deletion in the dystrophin gene and an expansion of the CGG repeat in the FMR1 gene.…”

Section: Discussionmentioning

confidence: 99%

“…To the best of our knowledge, only one case of atypical DMD with FXS is known [ 16 ]. Furthermore, one peculiar family is described by Todorova et al [ 17 ], where an asymptomatic mother, carrier of three X-linked disorders, had two boys both suffering from severe ichthyosis, one also with FXS and the other one with DMD.…”

Section: Introductionmentioning

confidence: 99%

Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis

Tabolacci

Pomponi

Remondini

et al. 2021

Genes

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Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and autism caused by the instability of a CGG trinucleotide repeat in exon 1 of the FMR1 gene. The co-occurrence of FXS with other genetic disorders has only been occasionally reported. Here, we describe three independent cases of FXS co-segregation with three different genetic conditions, consisting of Duchenne muscular dystrophy (DMD), PPP2R5D--related neurodevelopmental disorder, and 2p25.3 deletion. The co-occurrence of DMD and FXS has been reported only once in a young boy, while in an independent family two affected boys were described, the elder diagnosed with FXS and the younger with DMD. This represents the second case in which both conditions coexist in a 5-year-old boy, inherited from his heterozygous mother. The next double diagnosis had never been reported before: through exome sequencing, a girl with FXS who was of 7 years of age with macrocephaly and severe psychomotor delay was found to carry a de novo variant in the PPP2R5D gene. Finally, a maternally inherited 2p25.3 deletion associated with a decreased level of the MYT1L transcript, only in the patient, was observed in a 33-year-old FXS male with severe seizures compared to his mother and two sex- and age-matched controls. All of these patients represent very rare instances of genetic conditions with clinical features that can be modified by FXS and vice versa.

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“…Mondal et al suggested that rare variants in AFF2 may be the cause for previously unrecognized autism spectrum disorder (ASD) susceptibility locus and may help to explain some of the male excess of ASD [ 33 ]. The other related phenotypes to AFF2 gene are abnormality of metabolism/homeostasis [ 34 ], aggressive behavior [ 35 ], epicanthic fold, and delayed speech and development of language [ 36 ].…”

Section: Discussionmentioning

confidence: 99%

Novel in-frame deletion in MFSD8 gene revealed by trio whole exome sequencing in an Iranian affected with neuronal ceroid lipofuscinosis type 7: a case report

Bereshneh

Garshasbi

2018

J Med Case Reports

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BackgroundThe neuronal ceroid lipofuscinoses are a group of neurodegenerative, lysosomal storage disorders. They are inherited as an autosomal recessive pattern with the exception of adult neuronal ceroid lipofuscinosis, which can be inherited in either an autosomal recessive or an autosomal dominant manner. The neuronal ceroid lipofuscinoses are characterized by accumulation of autofluorescent lipopigments in the cells and one of the most important pathological manifestations is ceroid accumulation in the lysosomes. Various types of neuronal ceroid lipofuscinoses are categorized based on the clinical manifestations and the genes involved. Accumulatively, 15 different genes have been found so far to be implicated in the pathogenesis of at least nine different types of neuronal ceroid lipofuscinoses, which result in similar pathological and clinical manifestations.Case presentationA 5-year-old Iranian boy affected by a neurodegenerative disorder with speech problems, lack of concentration, walking disability at age of 4 years leading to quadriplegia, spontaneous laughing, hidden seizure, clumsiness, psychomotor delay, and vision deterioration at age of 5 years, which could be the consequence of macular dystrophy, was referred to us for genetic testing. Trio whole exome sequencing, Sanger validation, and segregation analysis discovered a novel in-frame small deletion c.325_339del (p.Val109_Ile113del) in MFSD8 gene associated with neuronal ceroid lipofuscinosis type 7.ConclusionsThe deletion found in this patient affects the exon 5 of this gene which is the region encoding transmembrane domain. Sequencing analysis in this family has shown that the index is homozygous for 15 base pairs in-frame deletion, his uncle has normal homozygous, and his parents are heterozygous. This pattern of mutation inheritance and the signs and symptoms observed in the affected male of this family are compatible with what is described in the literature for neuronal ceroid lipofuscinosis type 7 and, therefore, suggest that the MFSD8 gene deletion found in this study is most probably the cause of disease in this family.

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A family with fragile X syndrome, Duchenne muscular dystrophy and ichthyosis transmitted by an asymptomatic carrier

Cited by 5 publications

References 7 publications

Prenatally detected six duplications at Xp22.33-p11.22: a case report

Prenatally detected six duplications at Xp22.33-p11.22: a case report

Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis

Novel in-frame deletion in MFSD8 gene revealed by trio whole exome sequencing in an Iranian affected with neuronal ceroid lipofuscinosis type 7: a case report

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