Pathogenic variants in cause intellectual disability, ptosis and facial dysmorphism. Speech and language deficits have been identified as a manifestation of related disorder but have not been systematically characterized. We provide a comprehensive delineation of speech and language abilities in -related disorder and expand the phenotype. Speech and language, and health and medical history were assessed in 15 participants (male = 10, median age = 7 years 4 months) with 14 variants. Language disorders were common (11/12), and most had mild to moderate deficits across receptive, expressive, written, and social-pragmatic domains. Speech disorders were frequent (7/9), including phonological delay (6/9) and disorder (3/9), and childhood apraxia of speech (3/9). All those tested for cognitive abilities had a FSIQ ≥70 (4/4). Participants had vision impairment (13/15), fine (8/15) and gross motor delay (10/15) which often resolved in later childhood, infant feeding impairment (8/15), and infant hypotonia (9/15). We have implicated related disorder as causative for speech and language disorder, including childhood apraxia of speech. Adaptive behavior and cognition were strengths when compared to other monogenic neurodevelopmental chromatin-related disorders. The universal involvement of speech and language impairment is noteable, relative to the high degree of phenotypic variability in related disorder.

中文翻译：

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超越“言语延迟”：扩展 BRPF1 相关疾病的表型

致病性变异会导致智力障碍、上睑下垂和面部畸形。言语和语言缺陷已被确定为相关疾病的表现，但尚未得到系统的表征。我们提供了相关疾病的言语和语言能力的全面描述并扩展了表型。对 15 名参与者（男性 = 10，中位年龄 = 7 岁零 4 个月）的言语、健康和病史进行了评估，有 14 种变异。语言障碍很常见（11/12），大多数人在接受、表达、书写和社交语用领域有轻度至中度缺陷。言语障碍很常见（7/9），包括语音发育迟缓（6/9）和障碍（3/9），以及儿童言语失用症（3/9）。所有接受认知能力测试的人的 FSIQ ≥70 (4/4)。参与者患有视力障碍（13/15）、精细运动迟缓（8/15）和粗大运动迟缓（10/15）（通常在儿童后期解决）、婴儿喂养障碍（8/15）和婴儿肌张力低下（9/15）。我们认为相关疾病是言语和语言障碍的原因，包括儿童言语失用症。与其他单基因神经发育染色质相关疾病相比，适应性行为和认知是优势。相对于相关疾病的高度表型变异性，言语和语言障碍的普遍参与是值得注意的。