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Congenital Cranial Dysinnervation Disorder
Published in Vivek Lal, A Clinical Approach to Neuro-Ophthalmic Disorders, 2023
Patients in this subtype do not present with all the classical features of CFEOM and variable phenotypes such as bilateral or unilateral involvement, variable motility defects ranging from complete ophthalmoplegia (eyes fixed in hypo- and exotropic position) to less disabling and asymptomatic presentations with the ability to elevate eye above midline in some family members. Autosomal dominant inheritance with incomplete penetrance and variable expressivity is seen. The responsible gene has been mapped to chromosome 16 (13). TUBB3 gene mutations are the most commonly found mutations in CFEOM3 (14). Mutations in the KIF21A gene are also responsible for a few cases (8).
Genetic Counseling in Assisted Reproductive Technology
Published in Carlos Simón, Carmen Rubio, Handbook of Genetic Diagnostic Technologies in Reproductive Medicine, 2022
Autosomal dominant inheritance is when mutation in one allele of an autosomal gene is sufficient to cause disease. An affected individual typically has one non-functional allele and one functional allele. Either allele can be passed on to subsequent generations, resulting in a 50% recurrence risk for each offspring. Dominant conditions can sometimes be seen in a family, passed down from generation to generation and shared among siblings. Sometimes, dominant conditions are caused by a de novo gene change, when an individual can be the first in the family to be affected.
An Approach to Inherited Pulmonary Disease
Published in Stephen D. Litwin, Genetic Determinants of Pulmonary Disease, 2020
Autosomal recessive inheritance of a phenotype is often harder to distinguish from polygenic or nongenetic mechanisms than is autosomal dominant inheritance. The gene contributed to a child by a heterozygous parent is equally likely to be either the gene for the recessive phenotype or its allele; for each child the probability of inheriting from one parent the gene for the recessive phenotype is 1/2. For each child of two heterozygous parents the probability of inheriting the gene for the recessive phenotype from both parents is: 1/2 X 1/2 = 1/4. When sibship sizes are small most persons with the phenotype will have no affected sibs. Furthermore, some sibships who are the offspring of two heterozygous parents will by chance include no individuals who are homozygous for the relevant gene and thus no individuals who manifest the phenotype.
Clinical and genetic study of a pseudo-dominant retinoschisis pedigree: the first female patient reported in Chinese population
Published in Ophthalmic Genetics, 2022
Huajin Li, Jing Li, Yanfeng Huang, Ruifang Sui
Except for the well-known X-linked recessive inherited form of juvenile retinoschisis, other transmission patterns have been mentioned in previous studies. Yassur et al. described a three-generation retinoschisis pedigree with two instances of male–male transmission, which strongly indicated an autosomal dominant trait (3). Levis et al. reported foveoschisis in three daughters of a family with normal unrelated parents, illustrating the possibility of autosomal recessive inheritance (2). Unfortunately, neither of them had a clear fundus image or OCT, and most importantly, both of them lacked molecular evidence. There were nine hereditary retinoschisis pedigrees manifested as dominant inheritance (15,16,18–23,26). The common features include consanguineous marriage, male-to-male and/or male-to-female transmissions. Among which only five of them were genetically confirmed X-linked retinoschisis (15,16,18,19,26). X-linked recessive is the only genetically confirmed pattern of transmission as of now. The pedigree in our study was disguised as dominant inheritance due to the presence of male-to-male transmission. This entity was the first identified in Chinese population.
Congenital alacrima
Published in Orbit, 2022
Zhenyang Zhao, Richard C. Allen
Branching morphogenesis is a key embryonic process for developing the tree-like architecture of multiple organs including lacrimal and salivary glands. Mesenchymal expression of fibroblast growth factor 10 (FGF10) is necessary for lacrimal gland development through interaction with its ligand, fibroblast growth factor receptor 2 (FGFR2), localized to the epithelium.63 Allelic heterogeneity of FGF10 mutations cause both aplasia of the lacrimal and salivary glands (ALSG) and lacrimo-auriculo-dento-digital (LADD) syndrome. Additional causative mutations in FGFR2 or FGFR3, are also identified in LADD,64 which covers a wider spectrum of malformations, including the dental, auditory, and digital abnormalities. Both conditions follow an autosomal dominant inheritance. Involvement of the lacrimal excretory apparatus is frequently reported, including hypoplastic or aplasia of puncta, nasolacrimal duct obstruction and dacryocystocele.29,30,32 Oculofacial features such as telecanthus, hypertelorism and congenital ptosis are found in LADD but absent in ALSG.
A special case of hypertrophic cardiomyopathy with a differential diagnosis of isolated cardiac amyloidosis or junctophilin type 2 associated cardiomyopathy
Published in Acta Clinica Belgica, 2021
Sévérine De Bruijn, Xavier Galloo, Gilles De Keulenaer, Edgard A. Prihadi, Christiane Brands, Mark Helbert
In ATTR, the hepatic transport protein TTR, previously called prealbumin, is misfolded into an amyloid protein. TTR-related CA accounts for 18% of all cases of CA and is characterised by a progressive infiltrative cardiomyopathy that mimics hypertensive hypertrophic heart disease [7]. Transthyretin amyloidosis encompasses two subtypes. The hereditary/familial type (mATTR) – also called mutant type – arises from misfolding a mutated TTR precursor protein. It is characterized by autosomal dominant inheritance with variable penetrance. In sporadic or wild type (wtATTR), formally also known as senile systemic amyloidosis (SSA), amyloid arises from genetically unaltered TTR [9]. In contrast to AL amyloidosis, mATTR and wtATTR are typically associated with milder clinical manifestations, slower progression, and hence also better prognosis. Since the very slow progression (an 86-your-old patient) and mild clinical presentation (general fatigue with only mild decreased systolic function and no overt clinical heart decompensation) the differential diagnosis of an AL amyloidosis is very improbable based on anamnesis and physical exam. Further work-up confirmed normal immunoglobulin light chains. Arguments in favour of an ATTR are elderly patient, male, slow progression and mild clinical symptoms. As the patient described above only presents cardiac manifestations without altered kidney or liver function, the preferred differential diagnosis of wtATTR is withheld over mATTR.