Genetic heterogeneity in Pakistani microcephaly families revisited

Ahmad, Ilyas; Baig, Shahid Mahmood; Abdulkareem, A. R.; Hussain, Muhammad Sajid; Sur, Ilknur; Toliat, Mohammad Reza; Nürnberg, Gudrun; Dalibor, Nina; Moawia, Abubakar; Waseem, Syeda Seema; Asif, Maria; Nagra, H.; Sher, Muhammad; Khan, Muhammad Mohsin Ali; Hassan, Ishtiaq; Rehman, Shoaib-Ur; Thiele, Holger; Altmüller, Janine; Noegel, Angelika A.; Nürnberg, Peter

doi:10.1111/cge.12955

Cited by 30 publications

(33 citation statements)

References 36 publications

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“…Some patients show hypo‐ and/or hyperpigmented spots (six patients: #3, #25, #27, #30, #32.1, and #32.2). Malformations are rare and do not present a recurrent pattern: scoliosis (two families: patients #32.1, #32.2, and #37), middle ear hypoplasia (one patient: #19), preaxial polydactyly (one patient: (Ahmad et al., )), unilateral cystic kidney (one patient: (Passemard et al., )), tricuspid insufficiency (one family: (Ariani et al., ))]. Deafness (one patient (Darvish et al., ), Guillain‐Barré syndrome (one patient (Passemard et al., )), and nystagmus (patient #24.3) have been reported or noticed in the present study.…”

Section: Mutationsmentioning

confidence: 99%

“…The vast majority of ASPM mutations are nonsense or frameshift mutations, predictive of the synthesis of a truncated protein. No IQ is available for patients carrying the two missense mutations (Ahmad et al., ; Darvish et al., ; Gul et al., ; Kraemer 2016). Most ASPM mutations are private.…”

Section: Mutationsmentioning

confidence: 99%

“…Although a large number of patients with ASPM mutations have been reported (Abdel‐Hamid et al., ; Ahmad et al., ; Akbariazar et al., ; Al‐Gazali & Ali, ; Ariani et al., ; Bond et al., ; Bond et al., ; Darvish et al., ; Desir, Abramowicz, & Tunca, ; Desir, Cassart, David, Van Bogaert, & Abramowicz, ; Gul et al., ; Gul et al., ; Halsall, Nicholas, Thornton, Martin, & Geoffrey Woods, ; Hashmi et al., ; Hu et al., ; Kousar et al., ; Kumar, Blanton, Babu, Markandaya, & Girimaji, ; Muhammad et al., ; Nakamura et al., ; Nicholas et al., ; Papari et al., ; Passemard et al., ; Pichon, Vankerckhove, Bourrouillou, Duprez, & Abramowicz, ; Rump et al., ; Saadi et al., ; Sajid Hussain et al., ; Shen et al., ; Tan et al., ; Wang, Khan, Han, & Zhang, ), their developmental phenotype has been documented only in a minority of cases. However, ID (Passemard et al., ) and epilepsy (Shen et al., ) are the most frequently reported clinical findings in patients with ASPM mutations.…”

Section: Introductionmentioning

confidence: 99%

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Autosomal recessive primary microcephaly due to ASPM mutations: An update

et al. 2018

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Autosomal recessive microcephaly or microcephaly primary hereditary (MCPH) is a genetically heterogeneous neurodevelopmental disorder characterized by a reduction in brain volume, indirectly measured by an occipitofrontal circumference (OFC) 2 standard deviations or more below the age- and sex-matched mean (-2SD) at birth and -3SD after 6 months, and leading to intellectual disability of variable severity. The abnormal spindle-like microcephaly gene (ASPM), the human ortholog of the Drosophila melanogaster "abnormal spindle" gene (asp), encodes ASPM, a protein localized at the centrosome of apical neuroprogenitor cells and involved in spindle pole positioning during neurogenesis. Loss-of-function mutations in ASPM cause MCPH5, which affects the majority of all MCPH patients worldwide. Here, we report 47 unpublished patients from 39 families carrying 28 new ASPM mutations, and conduct an exhaustive review of the molecular, clinical, neuroradiological, and neuropsychological features of the 282 families previously reported (with 161 distinct ASPM mutations). Furthermore, we show that ASPM-related microcephaly is not systematically associated with intellectual deficiency and discuss the association between the structural brain defects (strong reduction in cortical volume and surface area) that modify the cortical map of these patients and their cognitive abilities.

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Section: Mutationsmentioning

confidence: 99%

Section: Mutationsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Autosomal recessive primary microcephaly due to ASPM mutations: An update

et al. 2018

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“…His sister of 3 years old also had microcephaly and also showed the disease phenotype. Up until now various mutations have been found in CENPE (Ahmad et al, 2017).…”

Section: Mcph18-wdfy3mentioning

confidence: 99%

Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH)

et al. 2018

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Primary microcephaly (MCPH) is an autosomal recessive sporadic neurodevelopmental ailment with a trivial head size characteristic that is below 3-4 standard deviations. MCPH is the smaller upshot of an architecturally normal brain; a significant decrease in size is seen in the cerebral cortex. At birth MCPH presents with non-progressive mental retardation, while secondary microcephaly (onset after birth) presents with and without other syndromic features. MCPH is a neurogenic mitotic syndrome nevertheless pretentious patients demonstrate normal neuronal migration, neuronal apoptosis and neural function. Eighteen MCPH loci (MCPH1-MCPH18) have been mapped to date from various populations around the world and contain the following genes: Microcephalin, WDR62, CDK5RAP2, CASC5, ASPM, CENPJ, STIL, CEP135, CEP152, ZNF335, PHC1, CDK6, CENPE, SASS6, MFSD2A, ANKLE2, CIT and WDFY3, clarifying our understanding about the molecular basis of microcephaly genetic disorder. It has previously been reported that phenotype disease is caused by MCB gene mutations and the causes of this phenotype are disarrangement of positions and organization of chromosomes during the cell cycle as a result of mutated DNA, centriole duplication, neurogenesis, neuronal migration, microtubule dynamics, transcriptional control and the cell cycle checkpoint having some invisible centrosomal process that can manage the number of neurons that are produced by neuronal precursor cells. Furthermore, researchers inform us about the clinical management of families that are suffering from MCPH. Establishment of both molecular understanding and genetic advocating may help to decrease the rate of this ailment. This current review study examines newly identified genes along with previously identified genes involved in autosomal recessive MCPH.

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“…Globally, ASPM and WDR62 are the most commonly implicated genes, contributing to over 50% of gene mutations found in MCPH [31]. Most cases of MCPH are caused by point mutations within these genes involved in mitosis.…”

mentioning

confidence: 99%

The journey of Zika to the developing brain

et al. 2020

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Zika virus is a mosquito-borne Flavivirus originally isolated from humans in 1952. Following its re-emergence in Brazil in 2015, an increase in the number of babies born with microcephaly to infected mothers was observed. Microcephaly is a neurodevelopmental disorder, characterised phenotypically by a smaller than average head size, and is usually developed in utero. The 2015 outbreak in the Americas led to the World Health Organisation declaring Zika a Public Health Emergency of International Concern. Since then, much research into the effects of Zika has been carried out. Studies have investigated the structure of the virus, its effects on and evasion of the immune response, cellular entry including target receptors, its transmission from infected mother to foetus and its cellular targets. This review discusses current knowledge and novel research into these areas, in hope of developing a further understanding of how exposure of pregnant women to the Zika virus can lead to impaired brain development of their foetus. Although no longer considered an epidemic in the Americas, the mechanism by which Zika acts is still not comprehensively and wholly understood, and this understanding will be crucial in developing effective vaccines and treatments.Publisher's Note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

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Genetic heterogeneity in Pakistani microcephaly families revisited

Cited by 30 publications

References 36 publications

Autosomal recessive primary microcephaly due to ASPM mutations: An update

Autosomal recessive primary microcephaly due to ASPM mutations: An update

Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH)

The journey of Zika to the developing brain

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